rs262929

Variant names:

• chr6-37176628-A-G
• rs262929

Your query was ambiguous. Multiple possible variants found:

• chr6-37176628-A-G
• chr6-37176628-A-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.804 in 152,120 control chromosomes in the GnomAD database, including 49,293 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.80 (49293 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.54

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.861 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.804 AC: 122165 AN: 152002 Hom.: 49236 Cov.: 32

Gnomad AFR AF: 0.806

Gnomad AMI AF: 0.820

Gnomad AMR AF: 0.830

Gnomad ASJ AF: 0.800

Gnomad EAS AF: 0.876

Gnomad SAS AF: 0.884

Gnomad FIN AF: 0.752

Gnomad MID AF: 0.791

Gnomad NFE AF: 0.794

Gnomad OTH AF: 0.799

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.804 AC: 122282 AN: 152120 Hom.: 49293 Cov.: 32 AF XY: 0.805 AC XY: 59823 AN XY: 74358

Gnomad4 AFR AF: 0.806

Gnomad4 AMR AF: 0.830

Gnomad4 ASJ AF: 0.800

Gnomad4 EAS AF: 0.876

Gnomad4 SAS AF: 0.883

Gnomad4 FIN AF: 0.752

Gnomad4 NFE AF: 0.794

Gnomad4 OTH AF: 0.798

Alfa AF: 0.796 Hom.: 49626

Bravo AF: 0.808

Asia WGS AF: 0.875 AC: 3043 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.42
DANN	Benign	0.14

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs262929; hg19: chr6-37144404;